ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.12209C>T (p.Thr4070Ile) (rs746662023)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223150 SCV000271689 uncertain significance not specified 2015-09-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr40470Ile v ariant in DNAH5 has not been previously reported in individuals with pulmonary d isease, but has been identified in 0.15% (17/11564) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significanc e of the p.Thr40470Ile variant is uncertain, its frequency suggests that it is m ore likely to be benign.

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